Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: Case report and review of literature

Martin Krapp; Ahmet A. Baschat; Ulrich Gembruch; Katharina Gloeckner; Eberhard Schwinger; Erich Reusche

doi:10.1002/(SICI)1097-0223(199907)19:7<610::AID-PD596>3.0.CO;2-Q

Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: Case report and review of literature

Martin Krapp, Ahmet A. Baschat, Ulrich Gembruch, Katharina Gloeckner, Eberhard Schwinger, Erich Reusche

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Abstract

A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 + 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.

Original language	English (US)
Pages (from-to)	610-613
Number of pages	4
Journal	Prenatal Diagnosis
Volume	19
Issue number	7
DOIs	https://doi.org/10.1002/(SICI)1097-0223(199907)19:7<610::AID-PD596>3.0.CO;2-Q
State	Published - 1999
Externally published	Yes

Keywords

Fetal echocardiography
Prenatal diagnosis
Rhabdomyoma
Trisomy 21
Tuberous sclerosis

ASJC Scopus subject areas

Obstetrics and Gynecology
Genetics(clinical)

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10.1002/(SICI)1097-0223(199907)19:7<610::AID-PD596>3.0.CO;2-Q

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title = "Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: Case report and review of literature",

abstract = "A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 + 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.",

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T1 - Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21

T2 - Case report and review of literature

AU - Krapp, Martin

AU - Baschat, Ahmet A.

AU - Gembruch, Ulrich

AU - Gloeckner, Katharina

AU - Schwinger, Eberhard

AU - Reusche, Erich

PY - 1999

Y1 - 1999

N2 - A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 + 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.

AB - A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 + 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.

KW - Fetal echocardiography

KW - Prenatal diagnosis

KW - Rhabdomyoma

KW - Trisomy 21

KW - Tuberous sclerosis

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Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: Case report and review of literature

Abstract

Keywords

ASJC Scopus subject areas

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